In general, children with a small isolated nevus and a normal physical exam do not need further testing; treatment may include potential surgical removal of the nevus. If syndrome issues are suspected, neurological, ocular, and skeletal exams are important. Laboratory investigations may include serum and urine calcium and phosphate, and possibly liver and renal function tests. The choice of imaging studies depends on the suspected abnormalities and might include skeletal survey, CT scan of the head, MRI, and/or EEG.

Depending on the systems involved, an individual with Schimmelpenning syndrome may need to see an interdisciplinary team of specialists: dermatologist, neurologist, ophthalmologist, orthopedic surgeon, oral surgeon, plastic surgeon, psychologist.

Treatment of manifestations: special hair care products to help manage dry and sparse hair; wigs; artificial nails; emollients to relieve palmoplantar hyperkeratosis.

Screening for melanoma in FAMMM kindreds should begin at age 10 with a baseline total body skin examination including scalp, eyes, oral mucosa, genital area, and nail, as family members may develop melanoma in their early teens.

At Mayo Clinic, FAMMM patients with a confirmed mutation and family history of pancreatic cancer are offered screening with either high-resolution pancreatic protocol CT, MRI, or endoscopic ultrasound starting at age 50 or 10 years younger than the earliest family member with pancreas cancer. They are counseled on the lack of evidence-based data to support screening, and on the limitations of our current technology to detect a lesion at a stage amenable to therapy.

The diagnosis of AOS is a clinical diagnosis based on the specific features described above. A system of major and minor criteria was proposed.

The combination of two major criteria would be sufficient for the diagnosis of AOS, while a combination of one major and one minor feature would be suggestive of AOS. Genetic testing can be performed to test for the presence of mutation in one of the known genes, but these so far only account for an estimated 50% of patients with AOS. A definitive diagnosis may therefore not be achieved in all cases.

HED2 is suspected after infancy on the basis of physical features in most affected individuals. GJB6 is the only gene known to be associated with HED2. Targeted mutation analysis for the four most common GJB6 mutations is available on a clinical basis and detects mutations in approximately 100% of affected individuals. Sequence analysis is also available on a clinical basis for those in whom none of the four known mutations is identified.

There is no diagnosis as yet for Cutis verticis gyrata (CVH), but it can generally be found out by self, when the person is applying oil to the scalp or getting the hair fully shaven. The ripples are present either in identical form, mostly in the posterior direction, sometimes horizontally also, but it looks more like the ripples of the brain.

There is no clinical diagnosis for CVG as these cases are rarely seen and is often comorbid with other conditions.

The overall prognosis is excellent in most cases. Most children with Adams–Oliver syndrome can likely expect to have a normal life span. However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability.

There is no 'cure' for this condition and currently, medical treatment is limited to plastic surgery with excision of the folds by means of scalp reduction/surgical resection. Scalp subcision has also been suggested as a treatment. Additional suggestions also include injections of a dermal filler i.e. Sculptra (poly-L-lactic acid)

The diagnosis of an individual with acrodermatitis enteropathica includes each of the following:

- Plasma zinc level (lab)

- Light microscopy (skin biopsy)

- Electron microscopy (histology)

Nevus sebaceous was first identified in 1895 by Jadassohn. Sebaceous nevi occur in 1 to 3 of 1000 births, with equal incidence by sex. There is no test to determine whether an individual born with a sebaceous nevus will go on to develop further symptoms of Schimmelpenning syndrome. It has been reported that up to 10% of individuals with epidermal nevi may develop additional syndrome symptoms, but that number appears to be inconsistent with the rarity of the syndrome and may be overstated. Prevalence is unknown, but Epidermal nevus syndrome is listed with the National Organization for Rare Disorders, which defines "rare" as affecting "fewer than 200,000 people in the United States."

Nevus psiloliparus is a cutaneous condition, a rare scalp anomaly characterized by a variable degree of alopecia and an excessive amount of adipose tissue.

It is the main hallmark of encephalocraniocutaneous lipomatosis (ECCL), otherwise known as Haberland syndrome.

Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss). Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.

It is associated with a rare mutation of the transcription factor gene "SOX18".

Hypertrichosis simplex of the scalp is a cutaneous condition caused by defects in the corneodesmosin protein.

The original report was of a family in Cardiff, United Kingdom. There are subsequent reports of patients from the USA, France, Australia, UAE, India and from Cuba.

Aplasia cutis congenita (ACC) is a rare disorder characterized by congenital absence of skin. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs.]It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.

The exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated. It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.

It can also seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.

Pilomatricomas have been observed in a variety of genetic disorders including Turner syndrome, myotonic dystrophy, Rubinstein-Taybi syndrome. Trisomy 9, and Gardner syndrome. It has been reported that the prevalence of pilomatricomas in Turner syndrome is 2.6%.

Hybrid cysts that are composed of epidermal inclusion cysts and pilomatricoma-like changes have been repeatedly observed in Gardner syndrome. This association has prognostic important since cutaneous findings in children with Gardner Syndrome generally precede colonic polyposis.

This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.

Eccrine carcinoma (also known as a syringoid carcinoma) is a rare cutaneous condition characterized by a plaque or nodule on the scalp, trunk, or extremities.

Lichen planus has a unique microscopic appearance that is similar between cutaneous, mucosal and oral. A Periodic acid-Schiff stain of the biopsy may be used to visualise the specimen. Histological features seen include:

- thickening of the stratum corneum both with nuclei present (parakeratosis) and without (orthokeratosis). Parakeratosis is more common in oral variants of lichen planus.

- thickening of the stratum granulosum

- thickening of the stratum spinosum (acanthosis) with formation of colloid bodies (also known as Civatte bodies, Sabouraud bodies) that may stretch down to the lamina propria.

- liquefactive degeneration of the stratum basale, with separation from the underlying lamina propria, as a result of desmosome loss, creating small spaces (Max Joseph spaces).

- Infiltration of T cells in a band-like pattern into the dermis "hugging" the basal layer.

- Development of a "saw-tooth" appearance of the rete pegs, which is much more common in non-oral forms of lichen planus.

It is likely that this syndrome is inherited in an autosomal dominant fashion, however there may be a recessive form with hypotonia and developmental delay.

Examination of the hair shafts with a microscope may reveal changes of trichorrhexis nodosa.

Lichen planus lesions are diagnosed clinically by their "lichen-like" appearance. A biopsy can be used to rule out conditions that may resemble lichen planus, and can pick up any secondary malignancies.

AMS has been described by multiple authors and institutions, and various definitions have been adopted. According to Newton et al., a scoring system allotting one point per feature establishes AMS with scores greater than or equal to 3. The features include: 1) two or more clinically atypical nevi, 2) more than 100 nevi in patients between 20 and 50 years of age, 3) more than 50 nevi in patients under 20 years of age or more than 50 years of age, 4) more than one nevus in buttocks or instep, 5) nevi on the anterior scalp, 6) one or more pigmented lesions in the iris.

The Classical (1990) definition uses the following criteria: 1) 100 or more melanocytic nevi, 2) one or more melanocytic nevi greater than or equal to 8mm in its largest diameter, and 3) one or more clinically atypical melanocytic nevi.

The National Institutes of Health (NIH) Consensus 1992 definition, which is still controversial, requires a family history of melanoma, in addition to a large number of melanocytic nevi (often greater than 50) and melanocytic nevi that present certain histological features.

Pilomatricoma, also known as a calcifying epithelioma of Malherbe, Malherbe calcifying epithelioma, and Pilomatrixoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively uncommon and typically occur on the scalp, face, and upper extremities. Clinically, pilomatricomas present as a subcutaneous nodule or cyst with unremarkable overlying epidermis that can range in size from 0.5-3.0 cm, but the largest reported case was 24 cm.

Avoid aggressive brushing and grooming, strong chemicals, permanents, straightening, and similar hair-damaging habits.