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Scarring alopecia is relatively uncommon in infants and children and rarely discussed in the paediatric literature. It does not appear to have been previously documented as a consequence of compromised oxygenation and blood supply in the neonatal population or as a complication of extracorporeal membrane oxygenation (ECMO) treatment. During a six month period, we observed five patients who presented to our neonatal intensive care unit with pressure ulcers that eventuated in scarring alopecia. The patients were all > or = 2500 g at birth, had some disruption of the cardiac circulation, were hypoxaemic and acidotic, and required vasopressor treatment. Institution of a positioning schedule and use of a thermostable Spenco gel pad during the subsequent six month period eliminated the presence of pressure ulceration and scarring alopecia in this at-risk population. Although scarring alopecia is a permanent condition, skin changes preceding its development in this setting are recognisable and follow a predictable pattern and time course, and should therefore allow for intervention at an earlier stage. Neonatal ECMO patients, as well as those who suffer hypoxaemia-hypoperfusion, but do not require circulatory bypass, appear to be at increased risk for development of the pressure ulcers that precede scarring alopecia. Paediatricians should consider this possibility and seek the appropriate historical information when confronted with a case of scarring alopecia after the neonatal period. [ABSTRACT FROM AUTHOR]

We report four infants born with necrotic caput succedaneum that led to a scarring alopecia with ongoing inflammation and persistent scale-crust. These lesions did not significantly improve with topical or oral antibiotics, but did respond somewhat to topical corticosteroids. Alopecia with chronic erosive scale-crust and a moderate response to topical corticosteroids are findings consistent with a diagnosis of erosive pustular dermatosis of the scalp.

Lipoatrophic panniculitis likely represents a group of disorders characterized by an inflammatory panniculitis followed by lipoatrophy. It occurs locally in a variety of settings and has been reported in the literature under various terms, including annular atrophic connective tissue panniculitis of the ankles, annular and semicircular lipoatrophy, abdominal lipoatrophy, and connective tissue panniculitis. Herein, a case of annular lipoatrophy of the ankles is described in a 6-year-old girl with autoimmune thyroid disease. Histologically, a mixed lobular panniculitis with lipophages was present. This pattern resembles that seen in lipoatrophic panniculitis. After a single, acute episode of an inflammatory process with subsequent lipoatrophy, her skin lesions have stabilized for 2 years requiring no treatment.

Aplasia cutis of the scalp is often a sporadic condition, but familial occurrences with an autosomal dominant inheritance have been documented. Aplasia cutis of the scalp may be seen in two main clinical variants: oval-shaped membranous aplasia cutis and irregular, larger defects. We report six families in whom more than one member has aplasia cutis of the scalp, all of them with large irregular defects located over the vertex or anterior to the vertex along the sagittal suture. We review previous reports of this entity with clinical pictures and note that in most instances, the defects are of the nonmembranous variant.

Objective: To call attention to constipation as a frequent sign of lichen sclerosus (LS) in girls., Methods: A focused questionnaire was sent to parents of 24 girls with anogenital LS seen in the pediatric dermatology clinic at the Children's Hospital of Wisconsin between January 2001 and May 2004., Results: Eighteen of 24 questionnaires were completed and returned. The average age of onset of LS was 4.2 years, but average age at diagnosis was 5.2 years; only 1 patient was diagnosed correctly by her primary care physician. Itching was the most common symptom (78%). Severe constipation was reported in 67% of patients, and 89% had at least 1 gastrointestinal complaint (bleeding with bowel movements, fissuring, soiling, fecal impaction, or constipation)., Conclusions: Childhood anogenital LS often presents with recalcitrant constipation or some other gastrointestinal complaint. Primary care physicians need to consider the diagnosis of LS and perform a thorough examination by looking for anogenital lesions when a female pediatric patient presents with unexplained constipation or other severe gastrointestinal complaints.

Phrynoderma is a distinctive form of follicular hyperkeratosis associated with nutritional deficiency. Although originally thought to represent vitamin A deficiency, several studies have demonstrated multiple etiologies. Characteristic skin lesions are hyperkeratotic papules that first appear on the extensor surfaces of the extremities, shoulders, and buttocks. We report a 14-month-old boy with malnourishment and hyperkeratotic papules and plaques with histologic changes typical of phrynoderma. Despite an extensive evaluation, a specific nutritional deficiency was not identified. Phrynoderma is believed to be a manifestation of severe malnutrition, not necessarily accompanying low vitamin A levels. While the literature supports a link between phrynoderma and vitamins E, B, A, and essential fatty acids general malnutrition seems to be the strongest association. The clinical picture typically improves with enhanced nutritional status. Phrynoderma must be considered in the differential diagnosis in patients with extensor surface hyperkeratotic papules and plaques in the setting of malnourishment and should prompt the clinician to evaluate cell markers of nutritional status, not just vitamin A. We believe this patient exemplifies the conundrum that faces clinicians in evaluating patients with extensor surface predominant hyperkeratotic papules and plaques in the setting of malnourishment.

Lichenoid eruptions are quite common in children and can result from many different origins. In most instances the precise mechanism of disease is not known, although it is usually believed to be immunologic in nature. Certain disorders are common in children, whereas others more often affect the adult population. Lichen striatus, lichen nitidus, Gianotti-Crosti syndrome, and lichen spinulosus are examples of lichenoid lesions that are more common in children than adults. Distinguishing these diseases is necessary for prediction of the course of the eruption and for optimal management. In most cases, certain clinical characteristics enable the clinician to reach a diagnosis, whereas in other cases biopsy is required for a definitive answer. Many of these lesions are self-limited and only require symptomatic treatment, although corticosteroids can hasten resolution in certain disorders. Discontinuation of the medication is often sufficient for resolution of lichenoid drug eruptions.

Congenital Volkmann ischaemic contracture or neonatal compartment syndrome has rarely been discussed in the literature of dermatology. The condition often involves the upper extremity with cutaneous lesions, contractures and neuropathy. Because the lesions can be mistaken for other entities including necrotizing fasciitis, neonatal gangrene, congenital varicella, aplasia cutis congenita, amniotic band syndrome, subcutaneous fat necrosis and epidermolysis bullosa, dermatologists play a significant role in the diagnosis and, consequently, the treatment of the patient. We describe a premature newborn who had a unilateral, well-demarcated necrotic plaque with a central pallor at birth. The plaque extended circumferentially over the left forearm from the wrist to the elbow. Left wrist oedema, bullae over the fingers and flaccid paralysis at the wrist were also noted.

Two children with chronic and asymmetric skin indurations are presented. The clinical and pathologic features are suggestive of asymmetric childhood scleredema and stiff skin syndrome. The key features of scleredema and stiff skin syndrome are discussed.

A 14-year-old girl was admitted to the hospital because of persistent throat pain, fever, fatigue, 25 pound weight loss, and leukopenia. On physical examination she was thin, ill-appearing, and had necrotic papules on the face and palpable cervical lymph nodes. Presumptive differential diagnosis included occult malignancy and infection. Numerous investigative procedures failed to elucidate a source. Vasculitis was eventually appreciated after repeat skin biopsy. Numerous serologic studies were performed and were notable for a very low level of the second component of complement without direct evidence of lupus erythematosus (LE) or other autoimmune conditions. A diagnosis of C2 deficiency-associated vasculitis was made. She was treated with high-dose prednisone and cyclophosphamide with resolution of her symptoms. Two years later she returned with marked malar erythema. Antinuclear and Smith antibodies were then detected and a diagnosis of LE was made. She was treated with hydroxychloroquine and sun-avoidance measures with clearance of the malar rash.

Background: Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark., Observations: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP., Conclusions: Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.

We describe 8 children with hyper-IgE syndrome who had papulopustular eruption on the face and scalp in the first year of life. Seven of the 8 patients had persistent peripheral eosinophilia and 3 had leukocytosis noted before diagnosis. Skin biopsy specimens in 6 patients revealed spongiosis and perivascular dermatitis and/or folliculitis with a predominance of eosinophils. Two patients had bone fractures and osteopenia. Recurrent pneumonia occurred in 6 children and pneumatoceles in 5. The diagnosis of hyper-IgE syndrome was made an average of 18 months after the onset of the initial papulopustular eruption. These findings may lead to earlier recognition of the disease and institution of appropriate treatment.

Background: Hemophagocytic lymphohistiocytosis is a rare, rapidly progressive, and potentially fatal disorder of activated histiocytes. The initial clinical presentation commonly includes fever, hepatosplenomegaly, and pancytopenia. Skin eruptions are described in up to 65% of patients. Information regarding the morphological features, configuration, and distribution of these eruptions is lacking and is typically reported as nonspecific and "maculopapular." The aim of this report is to better delineate the cutaneous manifestations of the disorder to assist in differentiating the process from other systemic diseases., Observation: A case report of a neonate with hemophagocytic lymphohistiocytosis with generalized purpuric macules is described. The clinical features of 5 other patients with hemophagocytic lymphohistiocytosis at Children's Hospital of Wisconsin, Milwaukee, are summarized. Clinical images of 1 additional neonatal patient with hemophagocytic lymphohistiocytosis are presented as well. These observations demonstrate the varied cutaneous manifestations of hemophagocytic lymphohistiocytosis: erythroderma, generalized purpuric macules and papules, and morbilliform eruptions., Conclusion: Awareness of cutaneous involvement can assist in the initial diagnosis of hemophagocytic lymphohistiocytosis and potentially signify recurrences.

The Comèl-Netherton syndrome is an autosomal recessive multisystemic disorder characterized by localized or generalized congenital ichthyosis, hair shaft abnormalities, immune deficiency, and markedly elevated IgE levels. Life-threatening complications during infancy include temperature and electrolyte imbalance, recurrent infections, and failure to thrive. To study the clinical presentations of the Comèl-Netherton syndrome and its molecular cause, we ascertained 19 unrelated families of various ethnic backgrounds. Results of initial linkage studies mapped the Comèl-Netherton syndrome in 12 multiplex families to a 12 cM interval on 5q32, thus confirming genetic homogeneity of Comèl-Netherton syndrome across families of different origins. The Comèl-Netherton syndrome region harbors the SPINK5 gene, which encodes a multidomain serine protease inhibitor (LEKTI) predominantly expressed in epithelial and lymphoid tissues. Recently, recessive mutations in SPINK5 were identified in several Comèl-Netherton syndrome patients from consanguineous families. We used heteroduplex analysis followed by direct DNA sequencing to screen all 33 exons and flanking intronic sequences of SPINK5 in the affected individuals of our cohort. Mutation analysis revealed 17 distinct mutations, 15 of which were novel, segregating in 14 Comèl-Netherton syndrome families. The nucleotide changes included four non-sense mutations, eight small deletions or insertions leading to frameshift, and five splice site defects, all of which are expected to result in premature terminated or altered translation of SPINK5. Almost half of the mutations clustered between exons 2 and 8, including two recurrent mutations. Genotype-phenotype correlations suggested that homozygous nucleotide changes resulting in early truncation of LEKT1 are associated with a severe phenotype. For the first time, we used molecular data to perform prenatal testing, thus demonstrating the feasibility of molecular diagnosis in the Comèl-Netherton syndrome.

The antiepileptic hypersensitivity syndrome is a severe, multiorgan reaction to oral antiepileptics that manifests as fever, rash, lymphadenopathy, and hepatitis. This same reaction pattern also has been described following administration of a few unrelated medications. We report on 11 patients who had drug-induced hypersensitivity syndrome and were admitted to our pediatric service and review 94 cases of this syndrome in pediatric patients identified from the literature. We undertook this study to summarize the findings and alert clinicians to the severe internal organ involvement that can occur with this syndrome.

Background: Infants with Down syndrome are at increased risk for hematologic abnormalities, including leukemoid reaction, transient myeloproliferative disorder, and congenital leukemia. The differential diagnosis of a vesiculopustular eruption in an infant with Down syndrome and these hematologic abnormalities is broad and includes benign, self-limited disorders as well as life-threatening infections., Observation: We describe 3 newborns with Down syndrome and vesiculopustular eruptions associated with myeloproliferative disorders during the neonatal period. These lesions differ from other neonatal vesicular eruptions in that they have a unique distribution, display pathergy, and contain immature hematopoietic cells similar to circulating blast cells. Resolution occurs without treatment as the hematologic disorder subsides., Conclusions: Infants with Down syndrome and hematologic abnormalities may have a cutaneous eruption that has characteristic clinical and histopathologic findings. It is possible that this eruption has been unrecognized in the past because of its self-limited course. Whether this eruption is a prognostic factor for the subsequent development of leukemia is uncertain.

The hypersensitivity syndromes are a group of diseases in which the cutaneous vasculature is altered through immunologic or nonimmunologic mechanisms. These reactions range in severity from mild to life-threatening and can be triggered by drugs, infectious agents, foods, or environmental allergens. Although their causes may vary, the morphologic appearance of these entities may be similar making a clinical diagnosis a challenge.

A 3-day-old male infant with a 3-cm firm subcutaneous mass was found to have decreased platelets, decreased fibrin, and increased fibrin split products diagnostic of Kasabach-Merritt phenomenon. The vascular lesion was resected without complications. We suggest that early surgical intervention is an excellent therapeutic option for Kasabach-Merritt phenomenon.

Background: Kwashiorkor is the edematous form of protein-energy malnutrition. It is associated with extreme poverty in developing countries and with chronic malabsorptive conditions such as cystic fibrosis in developed countries. Rare cases of kwashiorkor in affluent countries unrelated to chronic illness have been reported. We present 12 cases of kwashiorkor unrelated to chronic illness seen over 9 years by pediatric dermatologists throughout the United States, and discuss common causative themes in this easily preventable condition., Observations: Twelve children were diagnosed as having kwashiorkor in 7 tertiary referral centers throughout the United States. The diagnoses were based on the characteristic rash and the overall clinical presentation. The rash consisted of an erosive, crusting, desquamating dermatitis sometimes with classic "pasted-on" scale-the so-called flaky paint sign. Most cases were due to nutritional ignorance, perceived milk intolerance, or food faddism. Half of the cases were the result of a deliberate deviation to a protein-deficient diet because of a perceived intolerance of formula or milk. Financial and social stresses were a factor in only 2 cases, and in both cases social chaos was more of a factor than an absolute lack of financial resources. Misleading dietary histories and the presence of edema masking growth failure obscured the clinical picture in some cases., Conclusions: Physicians should consider the diagnosis of kwashiorkor in children with perceived milk allergies resulting in frequent dietary manipulations, in children following fad or unorthodox diets, or in children living in homes with significant social chaos. The presence of edema and "flaky paint" dermatitis should prompt a careful dietary investigation.

Objectives: To determine the prevalence of the carrier state in household contacts in children with tinea capitis, the duration of the carrier state, factors associated with carriage, and the proportion of carriers who develop clinical disease., Design: Cross-sectional, cohort, prevalence study., Setting: General pediatric clinic serving an indigent, inner-city, African American population., Patients: Household contacts in children with tinea capitis. Index cases and carriers (no clinical evidence of infection) were identified by culture. Carriers were monitored until the results of their culture became negative, they developed clinical disease, or a 6-month period had elapsed., Results: Fifty-six index cases and 114 contacts (50 adults and 64 children) were evaluated. Ninety-eight percent of the dermatophytes identified in index cases and 100% in carriers were Trichophyton tonsurans. At the initial visit, 18 (16%) of 114 (95% confidence interval [95% CI], 10-24) of contacts were carriers and 14 (32%) of 44 of the families studied had at least 1 carrier. At the 2-, 4-, and 6-month visits, the carrier state persisted in 7 (41%) of 17 (95% CI, 19-67), 3 (20%) of 15 (95% CI, 4-48), and 2 (13%) of 15 (95% CI, 2-40), respectively. Three of the carriers were lost to follow-up. Of the carriers, 1 (7%) of 15 (95% CI, 0.2-32) developed tinea capitis. Univariate and multivariate analysis showed no association of carrier state to age, sex, comb sharing, or cosleeping. However, cosleeping and comb sharing were common among the contacts, occurring 75% and 78% of the time, respectively, making statistical correlation difficult with our sample size., Conclusions: Initial prevalence of asymptomatic carriage of dermatophytes among household contacts of a child with tinea capitis was 16%, with 41% of carriers persisting up to 2 months. Thirty-two percent of families had at least 1 member who was a carrier. Seven percent of the carriers developed an active infection. Treatment of carriers with sporicidal shampoo should be considered since they may act as a reservoir for infection or develop active disease. The high prevalence of cosleeping and comb sharing may be important factors in the spread of the disease.

A 14-year-old adolescent girl presented with a 2-year history of an exquisitely tender, vegetating cheilitis. Because of this, she was unable to drink fluids and was repeatedly hospitalized for dehydration and pain management. Lip and skin biopsies, as well as multiple laboratory studies did not support a definitive diagnosis. After 2 years, a diagnosis of factitial cheilitis was finally established.

Females with Turner syndrome (TS) are alleged to have increased numbers of melanocytic naevi. Although a high count of acquired melanocytic naevi (AMN) is one of the major risk factors for melanoma, this malignancy has been reported only rarely in patients with TS. The purpose of this study was to explore the effects of environmental and genetic factors on AMN count and density in TS. AMN count and density in 24 patients with TS treated with growth hormone (GH). 24 GH-treated females with GH deficiency (GHD) and 24 normal females were compared in a cross-sectional study. The average AMN density in TS was 50 naevi/m2 as compared with 18 naevi/m2 in the GHD group and 24 naevi/m2 in normal controls (P = 0.001 and P = 0.004, respectively). Duration of GH therapy did not correlate with AMN count (P = 0.44) or AMN density (P = 0.81). The pattern of distribution of naevi between constantly exposed, intermittently exposed and unexposed skin was similar in all groups. Sun exposure was the major factor that affected the regional AMN densities in the control groups, but not in the TS group. The findings of our study indicate that the effects of environmental factors on AMN count and density may vary among genetically different populations. A review of the literature suggested that melanoma is no more prevalent in TS than in the general population.

Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.