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.

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.

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.

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.

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.

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.

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.

Pediatric DermatologyVolume 18, Issue 4 p. 356-358 Solitary, Lobulated, Firm Nodule Dean S. Morrell M.D., Dean S. Morrell M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorNancy B. Esterly M.D., Nancy B. Esterly M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this author Dean S. Morrell M.D., Dean S. Morrell M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorNancy B. Esterly M.D., Nancy B. Esterly M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this author First published: 07 July 2008 https://doi.org/10.1046/j.1525-1470.2001.01950.xCitations: 3 Dean S. Morrell M.D. Department of Dermatology, UNC-CH, CB 7287, Suite 3100, Thurston-Bowles Bldg., Chapel Hill, NC, 27599-7287. Editors: Anne W. Lucky, M.D., and S. Prendiville, M.B., M.R.C.P.L., F.R.C.P.C. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1 Lever WF & Castleman B. Clear cell myo-epithelioma of the skin. Report of ten cases. Am J Pathol 1952; 28: 691–699. 2 Winkelmann RK & Wolff K. Solid-cystic hidradenoma of the skin. Arch Dermatol 1968; 97: 651–661. 3 Hernandez-Perez E & Cestoni-Parducci R. Nodular hidradenoma and hidradenocarcinoma. J Am Acad Dermatol 1985; 12: 15–20. 4 Keasbey LE & Hadley GG. Clear-cell hidradenoma. Report of three cases with widespread metastases. Cancer 1954; 7: 934–952. 5 Hashimoto K, Dibella RJ, Lever WF. Clear cell hidradenoma. Histological, histochemical, and electron microscopic studies. Arch Dermatol 1967; 96: 18–38. 6 Kersting DW. Clear cell hidradenoma and hidradenocarcinoma. Arch Dermatol 1963; 87: 323–333. 7 Ohnishi T & Watanabe S. Histogenesis of clear cell hidradenoma: Immunohistochemical study of keratin expression. J Cutan Pathol 1997; 24: 30–36. 8 Gianotti R & Alessi E. Clear cell hidradenoma associated with the folliculo-sebaceous-apocrine unit. Am J Dermatopathol 1997; 19: 351–357. Citing Literature Volume18, Issue4August 2001Pages 356-358 ReferencesRelatedInformation

A 1-day-old female neonate developed signs of sepsis, bowel obstruction, and respiratory distress. She was born to a 34-year-old, gravida 2, para 1 woman at 40 weeks’ gestation. The pregnancy was uncomplicated. The neonate was delivered vaginally and had lightly meconiumstained amniotic fluid. She weighed 3260 g and had Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. The neonate was noted to have nodular lesions on the right neck and thighs, and several reddish purple macular lesions on the trunk and limbs (Figure 1). She had abdominal distention, but no hepatosplenomegaly or lymphadenopathy. Approximately 2 hours after delivery, the neonate developed respiratory distress. Radiographic studies revealed free air in the abdomen with a small-bowel perforation, multiple lytic lesions within the bones of the lower and upper extremities (Figure 2), and bilateral nodular and reticular lung densities on computed tomographic scan (Figure 3). Magnetic resonance imaging of the entire spine revealed multiple masses involving the paraspinal musculature as well as the right psoas muscle. The largest of the lesions was located in the right cervical paravertebral muscles; the brain was free of lesions. Echocardiographic findings, complete blood count, triglyceride levels, and TORCH (toxoplasmosis, other,

Pediatric DermatologyVolume 17, Issue 3 p. 231-234 What Syndrome Is This? Beth A. Drolet M.D., Beth A. Drolet M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorEulalia Baselga M.D., Eulalia Baselga M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorNancy B. Esterly M.D., Nancy B. Esterly M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this author Beth A. Drolet M.D., Beth A. Drolet M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorEulalia Baselga M.D., Eulalia Baselga M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorNancy B. Esterly M.D., Nancy B. Esterly M.D. Department of Dermatology, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this author First published: 25 December 2001 https://doi.org/10.1046/j.1525-1470.2000.01763.xCitations: 10 Address correspondence to Beth Drolet, M.D., Pediatric Dermatology, Froedtert West, 9200 West Wisconsin Ave., Milwaukee, WI 53226. Editors: Susan B. Mallory, M.D., and Bernice R. Krafchik, M.B., Ch.B., F.R.C.P.C. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume17, Issue3May/June 2000Pages 231-234 RelatedInformation

A fair skinned, red headed, legally blind 4-year-old white boy developed recurrent nosebleeds beginning at the age of 14 months, as well as easy bruising involving the face, chest, and shins. His nonconsanguinous parents also had a history of easy bruising and epistaxis, but had normal skin pigmentation, brown hair, and good visual function. On physical examination, the boy had hypopigmented skin, striking red hair, and a 16 mm × 16 mm round, yellow-greenish ecchymosis on his left mandible (Fig. 1). Ophthalmologic examination revealed occasional bursts of spontaneous horizontal nystagmus, prominent transillumination of both irides, minimal macular pigmentation, normal retinal vessels, and a 20/200 visual acuity in each eye, even with best correction. The remainder of the physical examination was normal. Laboratory studies revealed abnormal platelet function showing platelet disaggregation with adenosine diphosphate (ADP) and collagen. The patient has never required an emergency room visit, desmopressin, or platelet transfusion.

Pediatric DermatologyVolume 15, Issue 2 p. 140-142 Keratotic Papules on the Palm of a 12-Year-Old Boy Anne W. Lucky M.D., Anne W. Lucky M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorJulie S. Prendiville M.B., MRCPI, FRCPC, Julie S. Prendiville M.B., MRCPI, FRCPC Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorKelly J. Warren M.D., Kelly J. Warren M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorEulalia Baselga M.D., Eulalia Baselga M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorMatthew G. Fleming M.D., Matthew G. Fleming M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorNancy B. Esterly M.D., Corresponding Author Nancy B. Esterly M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinMedical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI 53226.Search for more papers by this author Anne W. Lucky M.D., Anne W. Lucky M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorJulie S. Prendiville M.B., MRCPI, FRCPC, Julie S. Prendiville M.B., MRCPI, FRCPC Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorKelly J. Warren M.D., Kelly J. Warren M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorEulalia Baselga M.D., Eulalia Baselga M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorMatthew G. Fleming M.D., Matthew G. Fleming M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinSearch for more papers by this authorNancy B. Esterly M.D., Corresponding Author Nancy B. Esterly M.D. Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, WisconsinMedical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI 53226.Search for more papers by this author First published: 16 March 2009 https://doi.org/10.1111/j.1525-1470.1998.tb01301.xCitations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume15, Issue2March‐April 1998Pages 140-142 RelatedInformation

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.

Lipoblastomatosis is a benign tumor of embryonic fat that is more common in male infants. It occurs more frequently in the soft tissues of the extremities. The diagnosis is made by biopsy, which shows globules of lipocytes and lipoblasts mixed with spindled and myxoid cells. MRI demonstrates fat infiltrating fascia and muscle. The infant described had clinical, histologic, and radiologic findings consistent with this diagnosis. Because of concern that total excision would compromise function, a debulking procedure is planned.

REPORT OF A CASE A previously healthy 4-year-old black girl was admitted to the hospital for fever, leg pain, and rash. The illness began 2 weeks earlier with rhinorrhea, spiking fevers, and a nonproductive cough. She was evaluated at another institution 5 days prior to admission for leg pain, fever, and a seizure. A viral syndrome was diagnosed and the seizure was attributed to the fever. Despite treatment with ibuprofen, the myalgias, arthralgias, and fever continued. Nausea, vomiting, and a painful rash developed 1 day prior to admission. There was no personal or family history of infections, bleeding disorders, or known exposure to anyone with a febrile illness. On physical examination, the child was febrile (temperature, 38.2°C) but alert and in no acute distress. Her neck was supple and results of the neurologic examination were normal. Her tonsils were red and swollen without exudate. There was nontender anterior and posterior

BACKGROUND The term aplasia cutis is used to describe congenital localized defects of the skin. This affliction is the end result of various in utero events. Aplasia cutis of the face, although rare, has been associated with numerous dysmorphic features and described under many clinical terms. OBSERVATIONS We studied 10 patients with oval, atrophic patches distributed in a linear pattern on the preauricular region of the face. Most of the defects were bilateral, and all consistently fell in an oblique line extending from the preauricular region to the angle of the mouth. This line corresponds to the region of fusion between the maxillary and mandibular facial prominences during embryonic development. CONCLUSIONS This type of facial aplasia cutis may be the result of incomplete fusion of the ectodermal groove between the maxillary and mandibular facial prominences. Although other types of facial skin defects may share a similar pathogenic mechanism, they are distinct in that they occur in different regions and may have other abnormal facial features.