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This article discusses a rare genetic disorder called hereditary fibrosing poikiloderma (HFP) that affects two siblings. HFP is characterized by childhood poikiloderma, muscle contractures, and pulmonary fibrotic defects. The siblings presented with pigmented cheek rash, eczematous lesions, and recurrent skin and ear infections. Genetic testing revealed a novel variation in the FAM111B gene, confirming a diagnosis of HFP. Treatment includes prophylactic antibiotics, photoprotection, and vitamin D supplementation. The article also explores the differential diagnoses and management approaches for HFP. [Extracted from the article]

Rothmund-Thomson syndrome (RTS), also known as congenital poikiloderma, is a genodermatosis that appears in infancy and is characterized by poikilodermatous changes in the skin. It is a very rare and complex genetic disorder that can present with a wide range of symptoms and affect multiple systems in the body. The syndrome is inherited in an autosomal recessive manner. A 21-year-old female patient presented to our rheumatology outpatient clinic with swelling of the hands, sclerodactyly, and stiffness of the fingers with preliminary diagnosis of systemic sclerosis. She has had deformities in her feet and hands since the age of one year. Physical examination revealed poikiloderma and extremity deformities. She also had neutropenia in her bloodstream. She was diagnosed with Rothmund Thomson syndrome after genetic test results, prescribed colchicine and followed up regularly every three months. After two years of follow-up, she was diagnosed with ovarian cancer.

Summary: Poikiloderma with neutropenia (PN) Clericuzio type (OMIM #604173) is a rare disease with areas of skin hyper‐ and hypopigmentation caused by biallelic USB1 variants. The current study was spurred by poor healing of a perianal tear wound in one affected child homozygous for c.266‐1G>A (p.E90Sfster8) mutation, from a family reported previously. Treatment with G‐CSF/CSF3 or GM‐CSF/CSF2 transiently increased neutrophil/monocytes count with no effect on wound healing. Analysis of peripheral blood revealed a lack of non‐classical (CD14+/−CD16+) monocytes, associated with a systemic inflammatory cytokine profile, in the two affected brothers. Importantly, despite normal expression of cognate receptors, monocytes from PN patients did not respond to M‐CSF or IL‐34 in vitro, as determined by cytokine secretion or CD16 expression. RNAseq of monocytes showed 293 differentially expressed genes, including significant downregulation of GATA2, AKAP6 and PDE4DIP that are associated with leucocyte differentiation and cyclic adenosine monophosphate (cAMP) signalling. Notably, the plasma cAMP was significantly low in the PN patients. Our study revealed a novel association of PN with a lack of non‐classical monocyte population. The defects in monocyte plasticity may contribute to disease manifestations in PN and a defective cAMP signalling may be the primary effect of the splicing errors caused by USB1 mutation. [ABSTRACT FROM AUTHOR]

Rothmund-Thomson syndrome (RTS), also known as congenital poikiloderma, is a genodermatosis that appears in infancy and is characterized by poikilodermatous changes in the skin. It is a very rare and complex genetic disorder that can present with a wide range of symptoms and affect multiple systems in the body. The syndrome is inherited in an autosomal recessive manner. A 21-year-old female patient presented to our rheumatology outpatient clinic with swelling of the hands, sclerodactyly, and stiffness of the fingers with preliminary diagnosis of systemic sclerosis. She has had deformities in her feet and hands since the age of one year. Physical examination revealed poikiloderma and extremity deformities. She also had neutropenia in her bloodstream. She was diagnosed with Rothmund Thomson syndrome after genetic test results, prescribed colchicine and followed up regularly every three months. After two years of follow-up, she was diagnosed with ovarian cancer. [ABSTRACT FROM AUTHOR]

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in the RECQL4 gene, which encodes a DNA helicase involved in DNA replication and repair, three additional genes have been recently identified in RTS: ANAPC1, encoding a subunit of the APC/C complex; DNA2, which encodes a nuclease/helicase involved in DNA repair; and CRIPT, encoding a poorly characterized protein implicated in excitatory synapse formation and splicing. Here, we review the clinical spectrum of RTS patients, analyze the genetic basis of the disease, and discuss molecular functions of the affected genes, drawing some novel genotype-phenotype correlations and proposing avenues for future studies into this enigmatic disorder. [ABSTRACT FROM AUTHOR]

Acrogeria is a rare, nonhereditary genetic syndrome that presents with nonprogressive atrophy of the skin of the distal extremities, giving it an aged appearance. The patients have characteristic facies with pinched faces, an "owl-eyed" appearance, and a beaked nose. We report a 14-year-old female patient of acrogeria who presented with typical clinical findings and dermoscopic features. Acrogeria, with onset usually at birth or thereafter, is often sporadic with potential genetic underpinnings. Uncommon features encompass skeletal and soft-tissue anomalies. The prognosis is generally favorable for these patients due to the lack of systemic involvement. To the best of our knowledge, dermoscopic features of acrogeria have not been described previously. We report this case owing to its rarity and to describe the dermoscopic features seen in this rare syndrome. [ABSTRACT FROM AUTHOR]

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in the RECQL4 gene, which encodes a DNA helicase involved in DNA replication and repair, three additional genes have been recently identified in RTS: ANAPC1, encoding a subunit of the APC/C complex; DNA2, which encodes a nuclease/helicase involved in DNA repair; and CRIPT, encoding a poorly characterized protein implicated in excitatory synapse formation and splicing. Here, we review the clinical spectrum of RTS patients, analyze the genetic basis of the disease, and discuss molecular functions of the affected genes, drawing some novel genotype-phenotype correlations and proposing avenues for future studies into this enigmatic disorder.

Acrogeria is a rare, nonhereditary genetic syndrome that presents with nonprogressive atrophy of the skin of the distal extremities, giving it an aged appearance. The patients have characteristic facies with pinched faces, an “owl-eyed” appearance, and a beaked nose. We report a 14-year-old female patient of acrogeria who presented with typical clinical findings and dermoscopic features. Acrogeria, with onset usually at birth or thereafter, is often sporadic with potential genetic underpinnings. Uncommon features encompass skeletal and soft-tissue anomalies. The prognosis is generally favorable for these patients due to the lack of systemic involvement. To the best of our knowledge, dermoscopic features of acrogeria have not been described previously. We report this case owing to its rarity and to describe the dermoscopic features seen in this rare syndrome.

Rothmund-Thomson Syndrome (RTS) is a rare, multisystem disease accompanied by many anomalies that require careful attention from preoperative evaluation to discharge regarding anesthesia preparation and management. Due to craniofacial deformities accompanying facial abnormalities, maintaining the airway becomes a complete struggle with a race against time for survival. This case report presents the preoperative preparation and perioperative management, the risks that may be encountered, and the detailed preparation for a 7-year-old patient diagnosed with RTS and multiple system involvement. General anesthesia was administered to this patient, who had intrauterine growth retardation, nail streaking, redness of the bullae and legs, and a history of somatotropin treatment and antinuclear antibody (ANA) positivity under optimum conditions. Thanks to successful and detailed preoperative preparation and perioperative management, the patient was followed up and discharged without any complications. Although RTS is rare, the need for general anesthesia often arises due to juvenile cataracts, dental anomalies, syndactyly and other extremity anomalies in these patients whose airway management is complex. Furthermore, this increases the current risk in the population of these patients. Managing these patients with a multidisciplinary approach will reduce complications, morbidity, mortality, and length of stay.

Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosing disease. To date, a total of 36 cases are documented, with eleven associated mutations identified and confirmed by Whole-Exome Sequencing and Sanger sequencing. However, these methods require a certain level of expertise. The FAM111B gene was annotated using the SNAPGENE tool to identify various restriction enzymes. The enzymes that cut at the positions where mutations of interest have been reported were selected. The method was implemented using the DNA samples extracted from the skin fibroblast collected from an affected South African family and unrelated control. Results The findings showed that of the eleven FAM111B mutational sites investigated with this method, ten mutations can be identified including the known mutation FAM111B NM_198947.4: c.1861T>G (pTyr621Asp) associated with the POIKTMP in South Africa. Conclusions Limited access to molecular diagnosis contributes to why POIKTMP is rarely diagnosed. Our study describes an inexpensive PCR–RFLP method to screen for POIKTMP FAM111B gene mutations. The PCR–RFLP can be used as a cost-effective method for diagnosing FAM111B mutations in POIKTMP, and it does not require having robust experience in molecular biology.

Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a rash that progresses to poikiloderma. Other common features include sparse hair, eyelashes and eyebrows, short stature, variable skeletal abnormalities, dental defects, cataracts, hypogonadism, and an increased risk for cancer, especially osteosarcoma and skin cancer. RTS is caused by biallelic pathogenic variants in ANAPC1 (Type 1 RTS) or RECQL4 (Type 2 RTS). We present an African girl with Type 2 RTS caused by a nonsense variant and an intronic variant in RECQL4. The patient presented precocious puberty, which has not been previously reported in RTS and that was treated with a GnRH analog, and anal stenosis, which has only been reported once. This case highlights the need to consider deep intronic variants in patients with RTS when pathogenic variants in the coding regions and exon/intron boundaries are not identified and expands the phenotypic spectrum of this disorder. [ABSTRACT FROM AUTHOR]

Mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma. Mycosis fungoides classically presents in the skin as patches, plaques, tumors, or erythroderma, progressing to involve the lymph nodes and peripheral blood. The many clinical variants, with different histologic patterns, and the subtle early clinical and histologic changes may delay early diagnosis and present a diagnostic challenge for clinicians. The greatest challenge in diagnosis is the pre-mycotic stage, which may closely resemble eczematous or psoriasiform dermatitis clinically and histologically. The persistence of lesions and inadequate response to treatment are the first warning signs. Later stages of MF have a poor prognosis with poor therapeutic response and fatal outcome. We describe a 72-year-old man, who presented with a two-year history of an unusual eruption, which started on the abdomen, around the waistline, and gradually spread to involve his back, trunk, and buttocks. Clinically, the skin eruption presented as tiger-like stripes. The diagnosis was confirmed after histopathologic examination. The patient was treated with NB-UVB phototherapy with marked improvement.

Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This narrative review aims to familiarize physicians with the clinical features, diagnosis and management of xeroderma pigmentosum. Methods: A search was conducted in December 2021 in PubMed Clinical Queries using the key term “xeroderma pigmentosum”. The search strategy included all clinical trials, observational studies and reviews published within the past 10 years. The information retrieved from the search was used in the compilation of this article. Results: Xeroderma pigmentosum is a condition of abnormal DNA repair of ultraviolet radiation-induced and oxidative DNA damage, which leads to increased skin cancer susceptibility. Approximately 50% of patients with xeroderma pigmentosum have increased photosensitivity and certain types of xeroderma pigmentosum are more prone to ocular disease and progressive neurodegeneration depending on the causative mutation. The diagnosis should be suspected in patients with increased photosensitivity and characteristic cutaneous, ophthalmological and neurological findings. A definite diagnosis can be made by the identification of biallelic mutation in one of the causative genes. Strict and consistent sun avoidance and protection and early detection and treatment of premalignant and malignant skin lesions are the mainstays of management. Treatment options for actinic keratosis include cryotherapy, topical imiquimod, topical 5-fluorouracil, chemical peeling, excision, CO2 laser resurfacing, fractional/pulsed laser therapy, and photodynamic therapy. Cutaneous malignancy can be treated by photodynamic therapy, curettage and electrodesiccation, or surgical excision. Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil can be used for the prevention of skin malignancy. Treatment options for poikiloderma include chemical peeling, dermabrasion and laser resurfacing. Methylcellulose eyedrops and soft ultraviolet-protective contact lenses may be used to keep the cornea moist and protect against the harmful effects of keratitis sicca. Investigational therapies include the use of T4 endonuclease-V liposome lotion and oral nicotinamide to reduce the rate of actinic keratoses and non-melanoma skin cancers and gene therapy for radical cure of this condition. Conclusion: Although currently there is no cure for xeroderma pigmentosum, increased awareness and early diagnosis of the condition, followed by rigorous sun avoidance and protection and optimal management, can dramatically improve the quality of life and life expectancy.

Introduction: Poikiloderma of Civatte (PC) is a common, acquired, chronic, benign poikiloderma of the neck and face, most commonly affecting menopausal females. Until the day of writing, few have been published regarding dermoscopy of PC. Objective: To describe the dermoscopic picture of PC, so as to provide a clinico-dermoscopic diagnosis and differential diagnosis for PC. Methods: Twenty-eight patients with PC, aged 26-73 years, of whom 19 females (67.86%) were evaluated by detailed history, clinical examination, and dermoscopic examination with hand-held dermatoscope. Results: The reticular pattern was observed in 15 cases (53.6%); the white dot in 10 (35.7%); the non-specific in 9 (32.1%); and the spaghetti and meatballs-like in 8 (28.6%). Regarding local dermoscopic features, flying seagull-like vessels were observed in 18 cases (64.3%); linear irregular vessels in 17 (60.7%); rhomboidal/polygonal vessels in 15 (53.6%); dotted/globular vessels in 10 (35.7%); white macules in 23 (82.1%); brown macules in 11 (39.3%); and whitish follicular plugs in 6 (21.4%). Conclusions: The dermoscopic picture of PC is highly characteristic and corresponds well to both clinical and histological findings. Dermoscopy may assist clinical diagnosis, as well as the differentiation from other dermatoses of the neck and face, especially poikilodermas with guarded prognosis.

Background: Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosing disease. To date, a total of 36 cases are documented, with eleven associated mutations identified and confirmed by Whole-Exome Sequencing and Sanger sequencing. However, these methods require a certain level of expertise. The FAM111B gene was annotated using the SNAPGENE tool to identify various restriction enzymes. The enzymes that cut at the positions where mutations of interest have been reported were selected. The method was implemented using the DNA samples extracted from the skin fibroblast collected from an affected South African family and unrelated control. Results: The findings showed that of the eleven FAM111B mutational sites investigated with this method, ten mutations can be identified including the known mutation FAM111B NM_198947.4: c.1861T>G (pTyr621Asp) associated with the POIKTMP in South Africa. Conclusions: Limited access to molecular diagnosis contributes to why POIKTMP is rarely diagnosed. Our study describes an inexpensive PCR–RFLP method to screen for POIKTMP FAM111B gene mutations. The PCR–RFLP can be used as a cost-effective method for diagnosing FAM111B mutations in POIKTMP, and it does not require having robust experience in molecular biology. [ABSTRACT FROM AUTHOR]

POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis is a congenital multisystem disorder due to FAM111B dominant variants. We present a literature review focusing on the frequency and the impact of hepatic involvement and a case report of a patient with severe end‐stage liver disease. Whole exome sequencing (WES) was conducted on the proband and his parents. A de novo FAM111B: c.1879A > G; (p.Arg627Gly) variant was identified. Hepatic involvement is present in 11 out of the 30 patients described in the literature, with different levels of dysfunction ranging from mild transaminitis to liver fibrosis found in three different cases by liver biopsies. Liver involvement seems to be a significant cause of morbidity. We propose to modify the previous acronym in POIK‐TMPL: including POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis/pancreas insufficiency and cancer, liver involvement/lymphedema. Moreover, we suggest screening patients with FAM111B variants for liver involvement from the first month of life and continue with an appropriate follow‐up. Further studies are needed to better understand this frequent complication. [ABSTRACT FROM AUTHOR]

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an increased susceptibility to malignancy. A 2½-year-old Indian boy presented with reticulate hyperpigmented erythema with superimposed hypopigmented atrophic macular lesions over the cheeks and diffuse background hyperpigmentation with multiple discrete atrophic hypopigmented macules of variable size over the abdomen and extensor aspects of the forearms. X-rays suggested metaphyseal irregularity around knee joint and radioulnar synostosis. Whole-exome sequencing was suggestive of a de novo novel RECQL4 gene mutation causing RTS Type II. There is an overlapping of clinical features of the group of syndrome associated with skin lesions, skeletal, and gastric manifestations. All these conditions present a challenge to the clinician. Thus, molecular diagnosis is the only way to resolve these phenotypically similar conditions. This report expands the RECQL4 gene pathogenic mutations spectrum.

Mutations in the human FAM111B gene are associated with a rare, hereditary multi‐systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP‐associated FAM111B gene mutations reported in thirty‐six patients from five families globally. To investigate the clinical significance of these mutations, we summarized individual cases by clinical features and position of the reported FAM111B gene mutations as those within and outside the putative protease domain (MWPPD and MOPPD respectively). MWPPD cases had more clinical manifestations than MOPPD (25 versus 18). Although the most common clinical features of poikiloderma, alopecia and hypohidrosis overall occurred in 94%, 86% and 75% of all cases with no significant differences between the MOPPD and MWPPD group, less common features included life‐threatening (pulmonary fibrosis 47% vs. 13%; liver abnormalities specifically cirrhosis 26% vs. 7%) and physically disabling conditions (myopathy 53% vs. 20%; tendon contracture 55% vs. 7%) were more common in MWPPD cases. Similarly, the only 2 cases of POIKTMP with fatal pancreatic cancers were both only in the MWPPD group. This review thus suggests that mutations within the putative protease domain of the FAM111B protein are associated with a broader range of clinical features and may predict increased POIKTMP severity and a poorer prognosis. [ABSTRACT FROM AUTHOR]

Kindler syndrome is a very rare genodermatosis with an autosomal recessive pattern and about 250 cases have been reported worldwide. The mutant gene is Fermitin family homolog 1 gene (KIND1), located on chromosome 20p12.3, which encodes for focal adhesion protein “Fermitin family homologue 1 protein” or Kindlin-1. It is characterized clinically by acral blistering in infancy, photosensitivity improving with age, progressive poikiloderma, cutaneous atrophy, dental problems, and various forms of mucosal involvement. Histologically, it is characterized by flattened and atrophic epidermis, edematous dermoepidermal junction, vacuolar degeneration of basal cells, pigmentary incontinence, and sparse perivascular lymphocytic infiltrate. Here, we report a case with classic skin manifestations in a 13-year-old female without photosensitivity.

Background: Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma of the face, small stature, sparse scalp hair, juvenile cataract, radial aplasia, and predisposition to cancers. Due to the rarity of RTS, the situation of patients with RTS in Japan has not been elucidated. Methods: In 2010 and 2020, following the results of a primary questionnaire survey, a secondary questionnaire survey on RTS was conducted nationwide to investigate the number of RTS cases and their associated skin lesions, bone lesions, other clinical features, and quality of life in Japan. Results: In 2010 and 2020, 10 and eight patients with RTS were recruited, respectively. Skin lesions such as poikiloderma, erythema, pigmentation, and abnormal scalp hair were observed in almost all cases. Bone lesions were observed in four cases in the 2010 and 2020 surveys, respectively. Two cases had mutations in the RECQL4 gene in the 2020 survey. Conclusions: Two nationwide surveys have shown the actual situation of patients with RTS in Japan. Cutaneous and bone manifestations are important for the diagnosis of RTS. However, many patients have no RECQL4 mutations. The novel causative gene of RTS should be further elucidated. [ABSTRACT FROM AUTHOR]

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an increased susceptibility to malignancy. A 2½-year-old Indian boy presented with reticulate hyperpigmented erythema with superimposed hypopigmented atrophic macular lesions over the cheeks and diffuse background hyperpigmentation with multiple discrete atrophic hypopigmented macules of variable size over the abdomen and extensor aspects of the forearms. X-rays suggested metaphyseal irregularity around knee joint and radioulnar synostosis. Whole-exome sequencing was suggestive of a de novo novel RECQL4 gene mutation causing RTS Type II. There is an overlapping of clinical features of the group of syndrome associated with skin lesions, skeletal, and gastric manifestations. All these conditions present a challenge to the clinician. Thus, molecular diagnosis is the only way to resolve these phenotypically similar conditions. This report expands the RECQL4 gene pathogenic mutations spectrum. [ABSTRACT FROM AUTHOR]

Poikiloderma-like cutaneous amyloidosis (PCA) is a rare variant of primary cutaneous amyloidosis. It was first described in 1929 and there are two clinical forms of PCA, the ordinary type and PCA syndrome. The characteristics of PCA include poikiloderma-like skin changes, lichenoid papules, blister formation, and cutaneous amyloid deposits on histological examination. These skin lesions usually occur at the extremities, consistent with the few cases that have been reported. We present a case of a 62-year-old man who presented with the features of poikiloderma-like cutaneous amyloidosis. Diagnosis of this unique condition is a challenge and a skin biopsy is necessary in such instances. A discussion of the differential diagnosis of this condition is also included.

Abstract There are various causes of childhood poikiloderma. A proper history and clinical examination may help to get conclusion and narrow down the differentials for the causes of poikiloderma.

Poikiloderma is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. It is a common cutaneous finding in a number of genodermatoses. We present a case of a 13-month-old male child with poikiloderma, heat intolerance, and photosensitivity, which made us evaluate him for poikiloderma-associated syndromes. The diagnosis of Hereditary Fibrosing Poikiloderma (HFP) was done based on the genetic study which showed mutation in FAM 111B gene.

Abstract Background Dermatomyositis is a humoral-mediated inflammatory myopathy with symmetrical proximal muscle weakness and dermatological manifestations such as Gottron’s papules, heliotrope rash, periungual abnormalities, and flagellate erythema. Erythroderma is a severe and potentially life-threatening dermatological condition with diffuse erythema and scaling involving more than 90% of the skin surface area. Poikiloderma vasculare atrophicans refers to mottled hyperpigmentation and hypopigmentation of the skin with in-between telangiectases and areas of atrophy and is considered a variant of mycosis fungoides. Poikilodermatomyositis is the term given to the condition with poikiloderma and inflammatory myopathy. Only a few cases are reported on erythroderma in dermatomyositis and poikilodermatomyositis. Erythrodermal pattern of dermatomyositis transforming into poikilodermatomyositis is a recognized rare manifestation of dermatomyositis and we could find only one case report in the literature. Case presentation A 53-year-old Sri Lankan woman presented with intermittent fever of 5 months’ duration with erythroderma. Later she developed progressive, symmetrical proximal muscle weakness. Following a short course of small dose steroids, erythroderma settled but changed to extensive poikiloderma involving more than 90% of her skin with her face being relatively spared. She had an early heliotrope rash, shawl sign, and Gottron papules. Electromyography and muscle biopsy were supportive of inflammatory myositis and skin biopsy showed evidence of dermatomyositis. Inflammatory markers and muscle enzymes were also elevated. Autoimmune antibodies and myositis-specific autoantibodies were negative. She was started on orally administered prednisolone 1 mg/kg per day with methotrexate 10 mg once a week and had a good response to treatment with resolution of the skin condition and improvement of muscle power. Imaging studies, endoscopies, and tumor markers did not reveal any malignancy. Conclusions This case illustrates a rare presentation of dermatomyositis initially presenting as fever, erythroderma, and proximal muscle weakness and later developing poikiloderma involving more than 90% of the skin. It is important to be aware of this rare presentation to avoid misdiagnosis. With the currently available literature it is not possible to conclude that erythroderma is a bad prognostic factor in dermatomyositis or a predictive factor for a malignancy. Patients have a good response to steroids with a combination of immunosuppressants.

Rothmund–Thomson syndrome is a rare, autosomal recessive genodermatosis characterized by an early-onset poikiloderma, skeletal abnormalities, short stature, premature aging, and increased susceptibility to malignancy. We report a case of a 1-year-old male child with bullous lesions and pigmentary changes over the face and extremities. Strict photoprotection and careful surveillance for malignancy forms the mainstay of treatment. The case is being reported due to its rarity and the diagnostic dilemmas associated with it.

There are various causes of childhood poikiloderma. A proper history and clinical examination may help to get conclusion and narrow down the differentials for the causes of poikiloderma. [ABSTRACT FROM AUTHOR]

Background: Poikilodermatous mycosis fungoides (pMF) is characterized by poikiloderma areas, typically involving the major flexural areas and trunk. Its presentation can be generalized or admixed with other forms of MF. Previous studies fail to correlate the clinical presentation with prognosis and laboratory findings. Some reports show pityriasis lichenoides chronica (PLC) preceding the poikiloderma.Objectives: Correlate prognostic, histopathological and molecular aspects of pMF with its clinical presentation.Methods: Retrospective analysis of 14 cases of generalized pMF (GpMF), 22 of localized pMF (LpMF) and 17 of pMF admixed with other forms of MF (mix-pMF).Results: Female predominance and lower age at diagnosis was found in all groups compared to classic MF, a high prevalence of PLC-like lesions in the GpMF group and a high rate of hypopigmented lesions in the mix-pMF group. There were 2 deaths within the GpMF group. Histology was similar to previously reported findings, as was the prevalence of CD4 T-cell infiltrate, compared to CD8. The T-cell clonality positivity was lower in the GpMF group, compared to other groups (27% GpMF, 80% LpMF and 100% mix-pMF).Discussion: This is the first article to categorize the different forms of pMF and correlate them with clinical and laboratory findings. The dermatological presentation differs among the groups. There was a high frequency of PLC-like lesions within the GpMF group and of hypopigmented lesions in mix-pMF. The histological and immunohistochemical findings were similar to those previously reported. Aggressive treatments are not recommended due to the good prognosis of all pMF forms. The low positivity of T-cell clonality in the GpMF group should be investigated. [ABSTRACT FROM AUTHOR]

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently identified autosomal dominant genetic syndrome with mutations in FAM111B. Herein, we report a 14‐month‐old girl who presented with progressive poikiloderma on the face. Her 24‐year‐old mother had an identical facial poikiloderma, hyperpigmentation, mottling and Blaschko line hypopigmentation on the trunk and limbs, as well as severe tendon contractures. Next‐generation sequencing based on a targeted gene capture panel revealed a missense mutation in the FAM111B gene p.Phe416Ser (c.1247T>C). Her mother had the same mutation as the proband. Moreover, this mutation was absent in the unaffected father and maternal grandparents. Based on the clinical manifestations and genetic analysis, the proband and her mother were diagnosed with POIKTMP. Protein modeling indicated that the mutation p.Phe416Ser dramatically changed the protein structure, especially its structural stability, and affected the protein function. This is the first report of POIKTMP in a Chinese family due to a novel FAM111B mutation. Furthermore, we have reviewed the genotype–phenotype correlation, differential diagnoses and management of POIKTMP. [ABSTRACT FROM AUTHOR]

The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.

Kindler's syndrome is a rare autosomal recessive disorder. It is characterized by trauma-induced blistering, photosensitivity, poikiloderma and mucosal inflammation. It occurs due to mutation on chromosome 20p. This report describes two siblings with history of blistering and photosensitivity in childhood and later developed poikiloderma with histopathology of effected skin showing features of poikiloderma. [J Med Allied Sci 2017; 7(2.000): 118-121]

Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN.

Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.