Annular lipoatrophy of the ankles.

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.

Cutaneous manifestations of hemophagocytic lymphohistiocytosis.

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.

Congenital dermatofibrosarcoma protuberans: variability in presentation.

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.

Lichenoid eruptions in children.

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.

Erosive pustular dermatosis of the scalp after perinatal scalp injury.

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.

Constipation as a feature of anogenital lichen sclerosus in children.

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: a manifestation of vitamin A deficiency?... The rest of the story.

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.

Asymptomatic inflammatory bowel disease presenting with mucocutaneous findings.

Although inflammatory bowel disease (IBD) typically presents with gastrointestinal complaints, mucocutaneous lesions are commonly associated and can precede gastrointestinal symptoms, thereby alerting the clinician to the diagnosis of IBD before the onset of gastrointestinal symptoms. Nine children are reported who had no gastrointestinal symptoms suggestive of IBD but presented with mucocutaneous findings of IBD and were subsequently diagnosed with Crohn's disease or ulcerative colitis based on characteristic features on gastrointestinal endoscopy and/or biopsies. The majority of the patients had oral and perianal lesions. We believe that IBD is a common etiology for persistent oral lesions in the pediatric population. In addition to a good history, children with unexplained oral mucous membrane lesions should have an examination of the rectal and genital mucosa as well as tests for complete blood count, iron levels, sedimentation rate, albumin, and occult blood in the stool with endoscopy and biopsies to rule out IBD if indicated.

Familial nonmembranous aplasia cutis of the scalp.

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.

Necrotic facial papules in an adolescent: C2 deficiency with eventual development of lupus erythematosus.

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.

Two cases for diagnosis: asymmetric childhood scleredema or stiff skin syndrome?

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.

Cutaneous manifestations of hyper-IgE syndrome in infants and children.

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.